ABCA3
Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol. Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3); also called pulmonary alveolar proteinosis due to ABCA3 deficiency. A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. Belongs to the ABC transporter superfamily. ABCA family. Note: This description may include information from UniProtKB.